KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.
|Number of pages||4|
|Journal||International Journal of Pediatric Otorhinolaryngology|
|Publication status||Published - Dec 1 2017|
- Hearing loss
- KBG syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health